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Mostrati risultati da 41 a 60 di 89
Titolo Tipologia Data di pubblicazione Autore(i) File
DiGeorge-like Syndrome in a Child with a 3p12.3 Deletion Involving MIR4273 Gene Born to a Mother with Gestational Diabetes Mellitus 1.1 Articolo in rivista 2017 Cirillo, Emilia; Giardino, Giuliana; Gallo, Vera; Galasso, Giovanni; Romano, Roberta; D'Assante, Roberta; Scalia, Giulia; Vecchio, Luigi Del; Nitsch, Lucio; Genesio, Rita; Pignata, Claudio
FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches 1.1 Articolo in rivista 2017 Gallo, Vera; Cirillo, Emilia; Giardino, Giuliana; Pignata, Claudio
Risk factors predisposing to the development of hypogammaglobulinemia and infections post-Rituximab 1.1 Articolo in rivista 2017 Christou, E. A. A.; Giardino, G.; Worth, A.; Ladomenou, F.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype 1.1 Articolo in rivista 2016 Toubiana, J.; Okada, S.; Hiller, J.; Oleastro, M.; Lagos Gomez, M.; Aldave Becerra, J. C.; Ouachee-Chardin, M.; Fouyssac, F.; Girisha, K. M.; Etzioni, A.; Van Montfrans, J.; Camcioglu, Y.; Kerns, L. A.; Belohradsky, B.; Blanche, S.; Bousfiha, A.; Rodriguez-Gallego, C.; Meyts, I.; Kisand, K.; Reichenbach, J.; Renner, E. D.; Rosenzweig, S.; Grimbacher, B.; van de Veerdonk, F. L.; Traidl-Hoffmann, C.; Picard, C.; Marodi, L.; Morio, T.; Kobayashi, M.; Lilic, D.; Milner, J. D.; Holland, S.; Casanova, J. -L.; Puel, A; Cypowyj, S; Thumerelle, C; Toulon, A; Bustamante, J; Tahuil, N; Salhi, Dalila; Boiu, S; Chopra, C; Di Giovanni, D; Bezrodnik, L; Boutros, J; Thomas, C; Lacuesta, G; Jannier, S; Korganow, As; Paillard, C; Boutboul, ; Bué, M; Marie-Cardine, A; Bayart, S; Migaud, M; Weiss, ; Karmochkine, M; Garcia-Martinez, Jm; Stephan, Jl; Bensaid, P; Jeannoel, Gp; Witte, T; Baumann, U; Harrer, T; Navarrete, C; ACOSTA HUGHES, Benjamin; Firinu, ; Pignata, C; Picco, P; Mendoza, D; Lugo Reyes, So; Torres Lozano, C; Ortega-Cisneros, M; Cortina, M; Mesdaghi, M; Nabavi, M; Español, T; Martínez-Saavedra, Mt; Rezaei, N; Zoghi, S; Pac, M; Barlogis, V; Revon-Rivière, G; Haimi-Cohen, Y; Spiegel, R; Miron, D; Bouchaib, J; Blancas-Galicia, L; Toth, B; Drexel, B; Rohrlich, Ps; Lesens, O; Hoernes, M; Drewe, E; Abinum, M; Sawalle-Belohradsky, J; Kindle, G; Depner, M; Milani, L; Nikopensius, T; Remm, M; Talas, Ug; Tucker, M; Willis, M; Leonard, S; Meuwissen, H; Ferdman, Rm; CORBO UGULINO, Wallace; Desai, Mm; Taur, P; Badolato, R; Soltesz, B; Schnopp, C; Jansson, Af; Ayvaz, D; Shabashova, N; Chernyshova, L; Bondarenko, A; Moshous, D; Neven, B; Boubidi, C; Ailal, F; Giardino, G; Del Giacco, S; Bougnoux, Me; Imai, K; Okawa, T; Mizoguchi, Y; Ozaki, Y; Takeuchi, M; Hayakawa, A; Lögering, B; Reich, K; Buhl, T; Eyerich, K; Schaller, M; Arkwright, Pd; Gennery, Ar; Cant, Aj; Warris, A; Henriet, S; Mekki, N; Barbouche, R; Ben Mustapha, I; Bodemer, ; Polak, M; Grimprel, E; Burgel, Pr; Fischer, A; Hermine, O; Debré, M; Kocacyk, D; Dhalla, F; Patel, Sy; Moens, L; Haerynck, F; Dullaers, ; Hoste, L; Sanal, O; Kilic, Ss; Roesler, J; Lanternier, F; Lortholary, O; Fieschi, C; Church, Ja; Roifman, C; Yuenyongviwat, A; Peterson, P; Boisson-Dupuis, S; Abel, L; Marciano, Be; Netea, Mg.
Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease 1.1 Articolo in rivista 2016 Dotta, Laura; Scomodon, Omar; Padoan, Rita; Timpano, Silviana; Plebani, Alessandro; Soresina, Annarosa; Lougaris, Vassilios; Concolino, Daniela; Nicoletti, Angela; Giardino, Giuliana; Licari, Amelia; Marseglia, Gianluigi; Pignata, Claudio; Tamassia, Nicola; Facchetti, Fabio; Vairo, Donatella; Badolato, Raffaele
Unraveling the link between ectodermal disorders and primary immunodeficiencies 1.1 Articolo in rivista 2016 D'Assante, Roberta; Fusco, Anna; Palamaro, Loredana; Giardino, Giuliana; Gallo, Vera; Cirillo, Emilia; Pignata, Claudio
Diagnostics of Primary immunodeficiencies through next-generation sequencing 1.1 Articolo in rivista 2016 Gallo, Vera; Dotta, Laura; Giardino, Giuliana; Cirillo, Emilia; Lougaris, Vassilios; D'Assante, Roberta; Prandini, Alberto; Consolini, Rita; Farrow, Emily G.; Thiffault, Isabelle; Saunders, Carol J.; Leonardi, Antonio; Plebani, Alessandro; Badolato, Raffaele; Pignata, Claudio
A Bronchovascular Anomaly in a Patient With 22q11.2 Deletion Syndrome 1.1 Articolo in rivista 2016 Romano, R; Cirillo, Emilia; Giardino, Giuliana; Gallo, Vera; Mollica, C; Pignata, Claudio
Unbalanced Immune System: Immunodeficiencies and Autoimmunity 1.1 Articolo in rivista 2016 Giardino, Giuliana; Gallo, Vera; Prencipe, MARIA ROSARIA; Gaudino, G; Romano, Roberta; De Cataldis, M; Lorello, P; Palamaro, Loredana; Di Giacomo, C; Capalbo, Donatella; Cirillo, Emilia; D'Assante, Roberta; Pignata, Claudio
Novel STAT1 gain of function mutation and suppurative infections 1.1 Articolo in rivista 2016 Giardino, Giuliana; Somma, Domenico; Cirillo, Emilia; Ruggiero, Giuseppina; Terrazzano, Giuseppe; Rubino, Valentina; Ursini, Valeria; Vairo, Donatella; Badolato, Raffaele; Carsetti, Rita; Leonardi, Antonio; Puel, Anne; Pignata, Claudio
Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis 1.1 Articolo in rivista 2015 Giardino, Giuliana; Gallo, Vera; Somma, Domenico; Farrow, Emily G; Thiffault, Isabelle; D'Assante, Roberta; Donofrio, Vittoria; Paciolla, Mariateresa; Ursini, Matilde Valeria; Leonardi, Antonio; Saunders, Carol J; Pignata, Claudio
Severe combined immunodeficiency-an update 1.1 Articolo in rivista 2015 Cirillo, Emilia; Giardino, Giuliana; Gallo, Vera; D'Assante, Roberta; Grasso, Fiorentino; Romano, Roberta; Di Lillo, Cristina; Galasso, Giovanni; Pignata, Claudio
B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand 1.1 Articolo in rivista 2015 Giardino, Giuliana; Cirillo, Emilia; Gallo, Vera; Esposito, Tiziana; Fusco, Francesca; Conte, Matilde Immacolata; Quinti, Isabella; Ursini, Matilde Valeria; Carsetti, Rita; Pignata, Claudio
Intrathecal amphotericin B therapy in a patient with X-linked chronic granulomatous disease and refractory cerebral invasive aspergillosis 1.5 Abstract in rivista 2014 Gallo, Vera; Cirillo, Emilia; Giardino, Giuliana; D'Assante, Roberta; Spennato, P.; Cinalli, G.; Pignata, Claudio
Chronic mucocutaneous candidiasis, recurrent herpetic infections and suppurative eyelid infections in a patient carrying a novel gain-of-function mutation in the STAT1 DNA-binding domain 1.5 Abstract in rivista 2014 Giardino, Giuliana; Cirillo, Emilia; Gallo, Vera; D'Assante, Roberta; Paciolla, M.; Ruggiero, Giuseppina; Ursini, M. V.; Carsetti, R.; Puel, A.; Pignata, Claudio
DiGeorge-like syndrome in a child with a 3p12.3 deletion involving miRNA-4273 born to a diabetic mother 1.5 Abstract in rivista 2014 Cirillo, Emilia; Gallo, Vera; Giardino, Giuliana; Galasso, G.; Romano, R.; D'Assante, Roberta; Genesio, R.; Baldini, A.; Nitsch, Lucio; Pignata, Claudio
FOXN1 in cell development and human diseases 1.1 Articolo in rivista 2014 Palamaro, Loredana; Romano, Rosa; Fusco, A.; Giardino, Giuliana; Gallo, Vera; Pignata, Claudio
TLR9 signaling in patients with ectodermal dysplasia and immunodeficiency associated with Nuclear Factor Essential Modulator (NEMO) mutations 1.5 Abstract in rivista 2014 Giardino, Giuliana; Naddei, Roberta; Cirillo, Emilia; Gallo, Vera; Esposito, T.; Fusco, F.; Quinti, I.; Ursini, M. V.; Carsetti, R.; Pignata, Claudio
Gastrointestinal involvement in patients affected with 22q11.2 deletion syndrome 1.1 Articolo in rivista 2014 Giardino, Giuliana; Cirillo, Emilia; Maio, F.; Gallo, Vera; Esposito, T.; Naddei, Roberta; Grasso, F.; Pignata, Claudio
Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects 1.1 Articolo in rivista 2014 Cirillo, Emilia; Giardino, Giuliana; Gallo, Vera; Puliafito, P.; Azzari, C.; Bacchetta, R.; Cardinale, F.; Cicalese, M. P.; Consolini, R.; Martino, S.; Martire, B.; Molinatto, C.; Plebani, A.; Scarano, G.; Soresina, A.; Cancrini, C.; Rossi, P.; Digilio, M. C.; Pignata, Claudio
Mostrati risultati da 41 a 60 di 89
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